{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:13:38Z","timestamp":1790565218031,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013128","name":"Multiple System Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012317","name":"UCLH Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001320","name":"Wolfson Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The objective of this study was to determine the prevalence of the GGC\u2010repeat expansion in <jats:italic>NOTCH2NLC<\/jats:italic> in whites presenting with movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We searched for the GGC\u2010repeat expansion in <jats:italic>NOTCH2NLC<\/jats:italic> using repeat\u2010primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with \u201cpossible\u201d or \u201cprobable\u201d MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeat\u2010primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and\/or long\u2010read sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 1 patient who carried the <jats:italic>NOTCH2NLC<\/jats:italic> mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor\/parkinsonism in the 100,000 Genomes Project.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>GGC\u2010repeat expansion in <jats:italic>NOTCH2NLC<\/jats:italic> is rare in whites presenting with movement disorders. In addition, existing whole\u2010genome sequencing data are useful in case ascertainment. \u00a9 2020 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28302","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T11:21:37Z","timestamp":1602069697000},"page":"251-255","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Low Prevalence of <scp><i>NOTCH2NLC<\/i> GGC<\/scp> Repeat Expansion in White Patients with Movement Disorders"],"prefix":"10.1002","volume":"36","author":[{"given":"Wai Yan","family":"Yau","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roisin","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"},{"name":"Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zecchinelli","sequence":"additional","affiliation":[{"name":"Biobank Centro Parkinson e Parkinsonismi ASST Pini CTO  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1990-1939","authenticated-orcid":false,"given":"Roberto","family":"Cilia","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta, Parkinson and Movement Disorders Unit  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Duga","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Humanitas University  Milan Italy"},{"name":"IRCCS Istituto Clinico Humanitas, Rozzano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Carmona","sequence":"additional","affiliation":[{"name":"UK Dementia Research Institute (UK DRI) at UCL  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viorica","family":"Chelban","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Tokyo  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurology The University of Tokyo  Tokyo Japan"},{"name":"Institute of Medical Genomics International University of Health and Welfare  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[{"name":"Divison of Neuropathology National Hospital for Neurology and Neurosurgery  London United Kingdom"},{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Turner","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas 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